Finding a phenotype for a SNP

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Scenario

You are working with the sequence variation rs3748816. This is a Single Nucleotide Polymorphism (SNP) located in the MMEL1 gene in human. The gene codes for a metalloprotease that cleaves polypeptides preferentially between hydrophobic residues.

 

Exercise

This sequence variation has turned up in several of your samples in patients with digestive troubles. Use Ensembl to find out if any phenotypes or diseases are known to be associated with this SNP.